The Genetics of Albinism

The Genetics of Albinism

The Genetics of Albinism

People with albinism have hypopigmentation in their hair, skin, or eyes. What causes it? Genetic mutations that affect production of the pigment melanin. Albinism takes a number of phenotypic forms, each tied to a different type of genetic mutation. The albinism gene is recessive and hence does not cause albinism unless a person inherits two copies of the gene for albinism in other words if there is no gene that makes the normal pigment. If a person has one gene for normal pigmentation and one gene for albinism, he or she will have enough genetic information to make normal pigment and will not suffer from the disease. When both parents carry the gene and neither of them have albinism (carriers), then there is 25% chance that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance. On the other hand two people with albinism will not automatically produce an albino child although the risks are several times higher. Therefore in conclusion researchers say that the disease is a mystery and more research has to be done in this area to completely understand it (Creel, 1980).

Albino individuals suffer from an inherited disorder of melanin production called Albinism. In this condition there is lack of pigmentation in the eyes, skin and hair. It is also known as hypopigmentation, oculocutaneous albinism or ocular albinism (Creel, 1980).

The natural pigment, melanin, is responsible for the color of our skin, hair and eyes. If the gene, encrypting this pigment is defective, our body will be pale and white. The tan a person gets is due to the increase in the pigment distribution when exposed to the ultra-violet rays of the sun. Melanin is a pigment that protects the skin from the harmful effects of UV light. The people in the tropics are darker for this reason, as they are more exposed to the sun, in comparison to the people who live in temperate climates.The less the sun, the more the paleness of the skin, hair and the eyes. Albinism results in a partial or complete absence of pigment from the skin, hair, and eyes. Albino's can live a normal life span, however, some form of albinism can be life threatening (Creel, 1980).

People suffering from skin and eye (oculocutaneous) albinism have white, yellow, or yellow-brown hair, light eyes, and pale skin. Some individuals with albinism have reddish or violet eyes, some have hazel or brown eyes. Most have blue. The parents of most children with albinism have normal hair and eye color and do not have a family history of albinism. This is a recessive type of inherited disorder which means that the chance of it being passed from one generation to the next is low (Creel, 1980).

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored ...